A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
一种新的 NAA10 变体,乙酰转移酶活性受损,导致发育迟缓、智力障碍和肥厚性心肌病
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-018-0136-0
Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen